{"orpha":2934,"name":"Polysyndactyly-cardiac malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bonneau syndrome"],"definition":"A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2934/","orphanet_url":"https://www.orpha.net/en/disease/detail/2934","names":{"fr":{"name":"Syndrome de polysyndactylie-malformation cardiaque","synonyms":["Syndrome de Bonneau"],"definition":"Anomalie rare du développement embryonnaire, engageant le pronostic vital, caractérisée par une polysyndactylie des doigts et des orteils, ainsi que par des malformations cardiaques congénitales complexes (canal atrioventriculaire, dextroposition de l'aorte, ventricule unique, hypotrophie ou hypertrophie d'un côté du coeur). Parmi les autres signes figurent des traits dysmorphiques (fontanelle large, grand front, ptosis, hypertélorisme, épicanthus, oreilles d'implantation basse avec malformations, racine du nez proéminente, nez bulbeux, narines antéversées, philtrum long et lisse, lèvre supérieure mince, micrognathie, hirsutisme, pli palmaire transverse unique), une hypoplasie des ongles, une agénésie/hypoplasie des phalanges, des contractures en flexion, une polysplénie, de multiples kystes hépatiques/rénaux, une atrophie de la vésicule biliaire, des anomalies de la plaque ductale et des anomalies génitales (micropénis, absence de descente testiculaire, hypoplasie du scrotum). Le syndrome est généralement létal in utero ou pendant la petite enfance, mais quelques cas de patients ayant survécu ont été rapportés."},"de":{"name":"Polysyndaktylie-Herzfehlbildung-Syndrom","synonyms":["Bonneau-Syndrom"],"definition":"Eine seltene, lebensbedrohliche Entwicklungsstörung während der Embryogenese, die durch komplexe angeborene Herzfehler (z. B. atrioventrikuläre Septumdefekte, Aortendextroposition, Einzelventrikel, Hypo- oder Hypertrophie einer Herzseite) sowie Polysyndaktylie der Finger und Zehen gekennzeichnet ist. Weitere Merkmale können dysmorphe Züge sein (große Fontanelle, hohe Stirn, Ptosis, Hypertelorismus, Epikanthus, tief angesetzte fehlgebildete Ohren, vorstehende Nasenwurzel, Knollennase, antevertierte Nasenlöcher, langes und glattes Philtrum, dünne Oberlippe, Mikrognathismus, Hirsutismus, einzelne Querfalte), Nagelhypoplasie, Phalangenagenesie/-hypoplasie, Flexionskontrakturen, Polysplenie, multiple Leber-/Nierenzysten, atrophische Gallenblase, Fehlbildung der Ductusplatte und Genitalanomalien (z. B. Mikropenis, nicht herabgestiegene Hoden, hypoplastisches Skrotum). Das Syndrom verläuft in der Regel in utero oder in der frühen Kindheit tödlich, es wurden jedoch einige Fälle von überlebenden Patienten berichtet."},"es":{"name":"Síndrome de polisindactilia-malformación cardíaca","synonyms":["Síndrome de Bonneau"],"definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis potencialmente mortal caracterizado por polisindactilia de los dedos de las manos y los pies, así como por defectos cardíacos congénitos complejos (como defectos septales auriculoventriculares, dextraposición aórtica, ventrículo único, hipo o hipertrofia cardiaca unilateral). Otras características adicionales pueden incluir rasgos dismórficos (fontanela agrandada, frente abombada, ptosis, hipertelorismo, epicanto, orejas malformadas y de baja implantación, raíz nasal prominente, nariz bulbosa, narinas antevertidas, filtrum largo y liso, labio superior fino, micrognatia, hirsutismo, pliegue transverso único), hipoplasia ungueal, agenesia/ hipoplasia de las falanges, contracturas en flexión, poliesplenia, quistes hepáticos o renales múltiples, atrofia de la vesícula biliar, malformación de la placa ductal hepática y anomalías genitales (como micropene, testículos no descendidos, hipoplasia del escroto). El síndrome suele ser mortal en el útero o en el periodo de lactancia, pero se han descrito casos de supervivencia."},"it":{"name":"Sindrome polisindattilia-cardiopatia","synonyms":["Sindrome di Bonneau"],"definition":"Si tratta di un difetto raro e potenzialmente letale dello sviluppo dell'embrione, caratterizzato da polisindattilia delle dita delle mani e dei piedi, e da cardiopatie congenite complesse (ad es. difetti del setto atrioventricolare, destroposizione dell'aorta, ventricolo unico, ipo- o ipertrofia di un lato del cuore). I pazienti possono presentare anche dismorfismi (fontanella ampia, fronte alta, ptosi, ipertelorismo, epicanto, orecchie malformate a basso impianto, radice del naso prominente, naso globoso, narici anteverse, filtro lungo e liscio, labbro superiore sottile, micrognazia, irsutismo, plica trasversale unica), ipoplasia delle unghie, agenesia/ipoplasia delle falangi, contratture in flessione, polisplenia, cisti epatiche/renali multiple, atrofia della cistifellea, malformazioni del piatto duttale e anomalie dei genitali (ad es. micropene, criptorchidismo, ipoplasia dello scroto). Di solito la malattia è letale in utero o nella prima infanzia, ma alcuni pazienti sopravvivono."},"nl":{"name":"Polysyndactylie - hartmalformatie-syndroom","synonyms":["Syndroom van Bonneau"],"definition":"Een zeldzaam levensbedreigend ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door polysyndactylie van vingers en tenen, alsook complexe congenitale hartdefecten (e.g. defecten van atrioventriculair septum, dextropositie van aorta, monoventrikel, hypo- of hypertrofie van een zijde van hart). Mogelijke bijkomende kenmerken zijn onder meer dysmorfe kenmerken (groot fontanel, hoog voorhoofd, ptose, hypertelorisme, epicanthus, laagstaande en misvormde oren, prominente neuswortel, knolvormige neus, anteversie van neusgaten, lang en glad filtrum, dunne bovenlip, micrognathie, hirsutisme, doorlopende dwarse handlijn van handpalm) nagelhypoplasie, agenesie/hypoplasie van falangen, flexiecontracturen, polysplenie, multipele lever-/niercysten, atrofische galblaas, malformatie van ductale plaat, en genitale anomalieen (e.g. micropenis, niet-ingedaalde testes, hypoplastisch scrotum). Het syndroom is meestal fataal <i>in utero</i> of in de zuigelingentijd, maar overlevende gevallen werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de polissindactilia-malformação cardíaca","synonyms":["Síndrome Bonneau"]},"pl":{"name":"Polisyndaktylia - wada serca","synonyms":["Zespół Bonneau"]},"cs":{"name":"Syndrom zahrnující polysyndaktylii a srdeční malformaci","synonyms":["Bonneauův syndrom"]},"uk":{"name":"Синдром полісиндактилії-вади серця","synonyms":["Синдром Бонно"],"definition":"A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported."},"zh":{"name":"多指(趾)并指(趾)畸形-心脏畸形综合征","synonyms":["Bonneau综合征"]},"tr":{"name":"Polisindaktili-kardiyak malformasyon sendromu","synonyms":["Bonneau sendromu"]}},"xrefs":[{"source":"OMIM","code":"263630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009900","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564875","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849719","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"12749069[PMID]_19400539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12749069[PMID]_19400539[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-16","source":"35602397[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006563","label":"Malformation of the hepatic ductal plate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000803","label":"Renal cortical cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}